Paroxysmal Nocturnal Hemoglobinuria
Pathogenesis
December 2010
The pathogenesis of PNH starts with an acquired somatic mutation in the hematopoietic stem cell. The mutation is in a gene called PIG-A which stands for X-linked phosphatidylinositol glycan complementation class A. The gene product is an enzyme that catalyzes addition of GPI (glycosyl phosphatidyl inositol) link to proteins, which enables them to be associated with the plasma membrane and expressed on the cell surface. Many proteins utilize GPI link for their expression, including CD55 and CD59 which are involved in protecting normal cells from lysis by complement.
Pathogenesis |
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- Introduction
- Paroxysmal Nocturnal Hemoglobinuria
- Prevalence
- Pathogenesis
- Paroxysmal Nocturnal Hemoglobinuria
- Progression
- New Developments
- New Developments, cont.
- Role of Laboratory Testing
- International PNH Group Recommendations: Who to Test?
- Diagnosis
- International PNH Group Recommendation: How to Test?
- Normal
- New WBC PNH
- Sensitivity and Reference Interval
- Interpretation and Reporting
- PNH—Summary
- Questions?
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